{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826248043",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "H",
          "end": 69,
          "referenceAllele": "P",
          "start": 68
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028741",
      "geneNCBI_id": 286676,
      "geneSymbol": "ILDR1",
      "hgvs": [
        "NP_001186728.1:p.Pro69His"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA2569022",
          "hgvs": "NM_001199799.2:c.206C>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS157671"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1701390[alleleid]",
        "alleleId": 1701390,
        "preferredName": "NM_001199799.2(ILDR1):c.206C>A (p.Pro69His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1705301",
        "RCV": [
          "RCV002283615"
        ],
        "variationId": 1705301
      }
    ]
  },
  "type": "amino-acid"
}